Thoracic Aortic AneurysmMSF1-TGFBR2NCT05146375
Genes Modulating the Severity of Aortic Aneurysms (MSF1-TGFBR2)
An observational study of Thoracic Aortic Aneurysm, run by French Cardiology Society at 1 site in France.
Trial summary
This project concerns a population at risk of sudden death by dissection of the thoracic aorta. Its interest is to make it possible to recognize the genes that protect or worsen the evolution of aneurysms, to better understand the mechanisms involved, to detect and treat aneurysms of the thoracic aorta, wich is a… Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Thoracic Aortic Aneurysm
- What is being tested?
- TGFBR2
- How many people
- 17 participants
- Where
- 1 siteFrance
- Study dates
- 24 Nov 2022to 30 Nov 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- Child, Adult, Older adult
Study population: 53 members of the MFS1 family are currently identified and have a medical follow-up in the national referral center for Marfan syndrome of the hospital Bichat-Claude Bernard, Paris.
Who may be able to join
- Member of MSF1 family. The MFS1 family is a family in which the aortic pathology is due to a mutation in the TGFBR2 gene. All patients with this family carry the same TGFBR2 mutation (heterozygous)
Who cannot join
- Refusal or linguistic or psychological inability to sign informed consent
Trial locations and contacts
1 site in 1 country.
About this study
This project concerns a population at risk of sudden death by dissection of the thoracic aorta. Its interest is to make it possible to recognize the genes that protect or worsen the evolution of aneurysms, to better understand the mechanisms involved, to detect and treat aneurysms of the thoracic aorta, wich is a pathology that is completely silent clinically until life-threatening complications.
The variability in the severity of the disease within the same family is related to modifier genes.
The objective is to find the modifying factors that account for the variability in the severity of the progression of aneurysms of the thoracic aorta.
Read the detailed description
Thoracic aortic aneurysms are silent, asymptomatic, potentially fatal pathologies due to the risk of aortic dissection. More and more often they are found during imaging tests done for another reason. Some aneurysms have genetic origin (autosomal dominantly inherited) and are particularly interesting because they can be recognized early (due to possible family screening), which allows us to understand the natural history of this pathology. The discovery of genes whose mutations explain the occurrence of these family aneurysms (initiator gene) has also made it possible to improve family screening and to better understand the pathophysiology of these aneurysms: we now recognize 3 groups of genes involved (extracellular matrix, contractile proteins of smooth muscle cell, TGF-β pathway (Transforming Growth Factor) [including mutations in TGF-β receptor 2 gene, TGFBR2]).
The variability in the severity of signs and aortic involvement is particularly marked in patients with aortic aneurysms due to mutations in the TGFBR2 gene. Some patients with these mutations present aggressive aneurysms with early dissection. Other patients have isolated late-onset aneurysms, and others have no signs.
This variability generates problems for clinical practice to give appropriate genetic advice, but also to adapt imaging monitoring, therapy, or sports restriction.
The present protocol aims is to investigate the variability in the severity of the disease within a large family carrying a mutation in the TGFBR2 gene. The MFS1 family is a family in which the aortic pathology is due to a mutation in the TGFBR2 gene. All patients with this family carry the same TGFBR2 mutation, heterozygous.
- Conditions
- Thoracic Aortic Aneurysm
- Being tested
- TGFBR2
- Keywords
- Vascular Diseases, Aneurysm, TGFBR2 mutation
- Medical subject headings
- Aortic Aneurysm, Thoracic, Vascular Diseases, Aneurysm
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TGFBR2Biological
TGFBR2 mutation correlation with severity of the aortic disease. Blood sampling. Serum will be analysed by DNA sequencing to detect specific mutations involved in aneurysms.
Cutaneous biopsy. Fibroblast culture will be done to assess the transcriptome analysis.
| Study group | Role | What they receive |
|---|---|---|
| MSF1 | Each member of the MSF1 family who consents to participate to the study will be included. Receives: Biological: TGFBR2 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical phenotype
The criterion of severity of aortic disorder is based on the maximal aortic diameter measurement (in millimeter, measured at the level of the sinuses of Valsalva) and on age-adjusted aortic dilation.
Measured: day 1
Secondary outcomes (3)
TGFBR2 and other gene mutations involved in aneurysms
correlation genotype/phenotype
Measured: All samples will be analysed at the same time, at the end of the recruitment.
Genotype analysis
Comparison between worst phenotype and genotype / Comparison between best phenotype and genotype
Measured: All samples will be analysed at the same time, at the end of the recruitment.
Transcriptome analysis
Gene expression will be assessed by RNA-sequencing. Correlation between transcriptional profiles and clinical phenotype will be performed.
Measured: All samples will be analysed at the same time, at the end of the recruitment.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Dec 2021
- Study start24 Nov 2022
- Primary completion28 Sep 2023
- Study completion30 Nov 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Thoracic Aortic AneurysmStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- French Cardiology Society
- Sponsor type
- University, hospital or other
- Collaborators
- Fédération Française de Cardiologie, Institut National de la Santé Et de la Recherche Médicale, France
- Responsible party
- Sponsor
- Investigators
- Guillaume JONDEAU, MD, Principal investigator, Hopital Bichat-Claude Bernard
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05146375
- Sponsor's protocol ID
- 2021-02
- Acronym
- MSF1-TGFBR2
- Status last verified
- Oct 2026
- First submitted
- 23 Nov 2021
- Last updated
- 9 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genes Modulating the Severity of Aortic Aneurysms (MSF1-TGFBR2)
- ClinicalTrials.gov ID
- NCT05146375
- Acronym / sponsor ID
- MSF1-TGFBR2 / 2021-02
- Conditions
- Thoracic Aortic Aneurysm
- Keywords
- Vascular Diseases, Aneurysm, TGFBR2 mutation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 17 participants (actual)
- Lead sponsor
- French Cardiology SocietyUniversity, hospital or other
- Collaborators
- Fédération Française de Cardiologie, Institut National de la Santé Et de la Recherche Médicale, France
- Study start
- 24 Nov 2022 (actual)
- Primary completion
- 28 Sep 2023 (actual)
- Study completion
- 30 Nov 2025 (actual)
- First posted
- 6 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This project concerns a population at risk of sudden death by dissection of the thoracic aorta. Its interest is to make it possible to recognize the genes that protect or worsen the evolution of aneurysms, to better understand the mechanisms involved, to detect and treat aneurysms of the thoracic aorta, wich is a pathology that is completely silent clinically until life-threatening complications.
The variability in the severity of the disease within the same family is related to modifier genes.
The objective is to find the modifying factors that account for the variability in the severity of the progression of aneurysms of the thoracic aorta.
Detailed description
Thoracic aortic aneurysms are silent, asymptomatic, potentially fatal pathologies due to the risk of aortic dissection. More and more often they are found during imaging tests done for another reason. Some aneurysms have genetic origin (autosomal dominantly inherited) and are particularly interesting because they can be recognized early (due to possible family screening), which allows us to understand the natural history of this pathology. The discovery of genes whose mutations explain the occurrence of these family aneurysms (initiator gene) has also made it possible to improve family screening and to better understand the pathophysiology of these aneurysms: we now recognize 3 groups of genes involved (extracellular matrix, contractile proteins of smooth muscle cell, TGF-β pathway (Transforming Growth Factor) [including mutations in TGF-β receptor 2 gene, TGFBR2]).
The variability in the severity of signs and aortic involvement is particularly marked in patients with aortic aneurysms due to mutations in the TGFBR2 gene. Some patients with these mutations present aggressive aneurysms with early dissection. Other patients have isolated late-onset aneurysms, and others have no signs.
This variability generates problems for clinical practice to give appropriate genetic advice, but also to adapt imaging monitoring, therapy, or sports restriction.
The present protocol aims is to investigate the variability in the severity of the disease within a large family carrying a mutation in the TGFBR2 gene. The MFS1 family is a family in which the aortic pathology is due to a mutation in the TGFBR2 gene. All patients with this family carry the same TGFBR2 mutation, heterozygous.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MSF1 | – | Biological: TGFBR2Each member of the MSF1 family who consents to participate to the study will be included. |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- 53 members of the MFS1 family are currently identified and have a medical follow-up in the national referral center for Marfan syndrome of the hospital Bichat-Claude Bernard, Paris.
Key inclusion criteria (1 listed)
- Member of MSF1 family. The MFS1 family is a family in which the aortic pathology is due to a mutation in the TGFBR2 gene. All patients with this family carry the same TGFBR2 mutation (heterozygous)
Key exclusion criteria (1 listed)
- Refusal or linguistic or psychological inability to sign informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TGFBR2TGFBR2 mutation correlation with severity of the aortic disease. Blood sampling. Serum will be analysed by DNA sequencing to detect specific mutations involved in aneurysms. Cutaneous biopsy. Fibroblast culture will be done to assess the transcriptome analysis. | Biological | MSF1 |
Primary outcome
Clinical phenotype
Time frame: day 1
The criterion of severity of aortic disorder is based on the maximal aortic diameter measurement (in millimeter, measured at the level of the sinuses of Valsalva) and on age-adjusted aortic dilation.
3 secondary outcomes
TGFBR2 and other gene mutations involved in aneurysms
Time frame: All samples will be analysed at the same time, at the end of the recruitment.
Genotype analysis
Time frame: All samples will be analysed at the same time, at the end of the recruitment.
Transcriptome analysis
Time frame: All samples will be analysed at the same time, at the end of the recruitment.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for Thoracic Aortic Aneurysm
Recruiting
Treatment in Thoracic Aortic Aneurysm: Surgery vs Surveillance
Ascending Aortic Aneurysm Enlargement, Ascending Aorta Aneurysm
Recruiting
GORE® TAG® Thoracic Branch Endoprosthesis Zone 0/1 Post-Approval Study
Aortic Arch Dissection, Aortic Arch Aneurysm
RecruitingPhase 4
Effect of Remimazolam Versus Propofol Total Intravenous Anesthesia on Intraoperative Hemodynamic Stability in Patients Undergoing Thoracic or Abdominal Endovascular Aortic Repair
Aortic Aneurysm, Thoracoabdominal, Aortic Aneurysm, Abdominal
Not yet recruitingPhase 4
Effects of Remimazolam on Postoperative Cognitive Dysfunction and Neuroinflammatory Biomarkers in Patients Undergoing Aortic Arch Surgery
Aortic Aneurysm of the Proximal Arch, Aortic Aneurysms Arch
Enrolling by invitation
Endovascular Treatment of Thoracic Aortic Disease
Thoracic Aortic Aneurysms, Dissecting, Aneurysm
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Guillaume JONDEAU, MD principal investigator
Hopital Bichat-Claude Bernard
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Thoracic Aortic Aneurysm, run by French Cardiology Society at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical phenotype (time frame: day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Oct 2026.